Reis A - Search Results

1

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.

Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij II, Knoers NV, Cochat P, Suláková T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M. Weber S, et al. Among authors: reis a. Eur J Hum Genet. 2000 Jun;8(6):414-22. doi: 10.1038/sj.ejhg.5200475. Eur J Hum Genet. 2000. PMID: 10878661

2

Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.

Bürger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A. Bürger J, et al. Among authors: reis a. Hum Genet. 1996 Sep;98(3):371-5. doi: 10.1007/s004390050223. Hum Genet. 1996. PMID: 8707310

3

Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster.

Weber A, Wienker TF, Jung M, Easton D, Dean HJ, Heinrichs C, Reis A, Clark AJ. Weber A, et al. Among authors: reis a. Hum Mol Genet. 1996 Dec;5(12):2061-6. doi: 10.1093/hmg/5.12.2061. Hum Mol Genet. 1996. PMID: 8968764

4

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Saar K, Chrzanowska KH, Stumm M, Jung M, Nürnberg G, Wienker TF, Seemanová E, Wegner RD, Reis A, Sperling K. Saar K, et al. Among authors: reis a. Am J Hum Genet. 1997 Mar;60(3):605-10. Am J Hum Genet. 1997. PMID: 9042920 Free PMC article.

5

Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.

Chrzanowska K, Stumm M, Bialecka M, Saar K, Bernatowska-Matuszkiewicz E, Michalkiewicz J, Barszcz S, Reis A, Wegner RD. Chrzanowska K, et al. Among authors: reis a. Clin Genet. 1997 May;51(5):309-13. doi: 10.1111/j.1399-0004.1997.tb02479.x. Clin Genet. 1997. PMID: 9212178

6

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.

Nürnberg P, Tinschert S, Mrug M, Hampe J, Müller CR, Fuhrmann E, Braun HS, Reis A. Nürnberg P, et al. Among authors: reis a. Am J Hum Genet. 1997 Oct;61(4):918-23. doi: 10.1086/514880. Am J Hum Genet. 1997. PMID: 9382103 Free PMC article.

7

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping.

Laass MW, Hennies HC, Preis S, Stevens HP, Jung M, Leigh IM, Wienker TF, Reis A. Laass MW, et al. Among authors: reis a. Hum Genet. 1997 Dec;101(3):376-82. doi: 10.1007/s004390050645. Hum Genet. 1997. PMID: 9439671

8

Gene localization for an autosomal dominant familial periodic fever to 12p13.

Mulley J, Saar K, Hewitt G, Rüschendorf F, Phillips H, Colley A, Sillence D, Reis A, Wilson M. Mulley J, et al. Among authors: reis a. Am J Hum Genet. 1998 Apr;62(4):884-9. doi: 10.1086/301793. Am J Hum Genet. 1998. PMID: 9529351 Free PMC article.

9

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A. Varon R, et al. Among authors: reis a. Cell. 1998 May 1;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5. Cell. 1998. PMID: 9590180 Free article.

10

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. Wallace RH, et al. Among authors: reis a. Nat Genet. 1998 Aug;19(4):366-70. doi: 10.1038/1252. Nat Genet. 1998. PMID: 9697698

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